Emmanuel Gonzales1,2, Sarah A Taylor3, Anne Davit-Spraul4, Alice Thébaut1,2, Nadège Thomassin5, Catherine Guettier6, Peter F Whitington3, Emmanuel Jacquemin1,2. 1. Pediatric Hepatology and Pediatric Liver Transplantation Unit and National Reference Centre for Rare Pediatric Liver Diseases, Bicêtre University Hospital, University of Paris-Sud, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France. 2. INSERM, UMR-S1174, Hepatinov, University of Paris-Sud, Orsay, France. 3. Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL. 4. Department of Biochemistry, Bicêtre University Hospital, University of Paris-Sud, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France. 5. Department of Pediatrics, Grenoble University Hospital, Grenoble, France. 6. Department of Pathology, Bicêtre University Hospital, University of Paris-Sud, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France.
Abstract
Some patients with microvillus inclusion disease due to myosin 5B (MYO5B) mutations may develop cholestasis characterized by a progressive familial intrahepatic cholestasis-like phenotype with normal serum gamma-glutamyl transferase activity. So far MYO5B deficiency has not been reported in patients with such a cholestasis phenotype in the absence of intestinal disease. Using a new-generation sequencing approach, we identified MYO5B mutations in five patients with progressive familial intrahepatic cholestasis-like phenotype with normal serum gamma-glutamyl transferase activity without intestinal disease. CONCLUSION: These data show that MYO5B deficiency may lead to isolated cholestasis and that MYO5B should be considered as an additional progressive familial intrahepatic cholestasis gene. (Hepatology 2017;65:164-173).
Some patients with microvillus inclusion disease due to myosin 5B (MYO5B) mutations may develop cholestasis characterized by a progressive familial intrahepatic cholestasis-like phenotype with normal serum gamma-glutamyl transferase activity. So far MYO5Bdeficiency has not been reported in patients with such a cholestasis phenotype in the absence of intestinal disease. Using a new-generation sequencing approach, we identified MYO5B mutations in five patients with progressive familial intrahepatic cholestasis-like phenotype with normal serum gamma-glutamyl transferase activity without intestinal disease. CONCLUSION: These data show that MYO5Bdeficiency may lead to isolated cholestasis and that MYO5B should be considered as an additional progressive familial intrahepatic cholestasis gene. (Hepatology 2017;65:164-173).
Authors: N Junge; J Dingemann; C Petersen; M P Manns; N Richter; J Klempnauer; U Baumann; A Schneider Journal: Internist (Berl) Date: 2018-11 Impact factor: 0.743
Authors: Lorenzo Anez-Bustillos; Duy T Dao; Alexis K Potemkin; Antonio R Perez-Atayde; Bram P Raphael; Alexandra N Carey; Daniel S Kamin; Jay R Thiagarajah; McGreggor Crowley; Kathleen M Gura; Mark Puder Journal: Hepatology Date: 2019-02-09 Impact factor: 17.425
Authors: Giovanni Vitale; Stefano Gitto; Francesco Raimondi; Alessandro Mattiaccio; Vilma Mantovani; Ranka Vukotic; Antonietta D'Errico; Marco Seri; Robert B Russell; Pietro Andreone Journal: J Gastroenterol Date: 2017-12-13 Impact factor: 7.527
Authors: Frank DiPaola; Jean P Molleston; Jiezhun Gu; Elizabeth T Cirulli; Naga Chalasani; Huiman Barnhart; David E Kleiner; Jay H Hoofnagle; Robert J Fontana Journal: J Pediatr Gastroenterol Nutr Date: 2019-08 Impact factor: 2.839
Authors: Amy C Engevik; Alexander W Coutts; Izumi Kaji; Paula Rodriguez; Felipe Ongaratto; Milena Saqui-Salces; Ramya Lekha Medida; Anne R Meyer; Elena Kolobova; Melinda A Engevik; Janice A Williams; Mitchell D Shub; Daniel F Carlson; Tamene Melkamu; James R Goldenring Journal: Gastroenterology Date: 2020-02-26 Impact factor: 22.682
Authors: Michael W Hess; Iris M Krainer; Przemyslaw A Filipek; Barbara Witting; Karin Gutleben; Ilja Vietor; Heinz Zoller; Denise Aldrian; Ekkehard Sturm; James R Goldenring; Andreas R Janecke; Thomas Müller; Lukas A Huber; Georg F Vogel Journal: J Clin Med Date: 2021-04-28 Impact factor: 4.964